Warren Kruger Receives NIH Grant to Further Study Treatment of Rare Genetic Disorder Classical Homocystinuria

Warren D. Kruger, PhD
Warren D. Kruger, PhD

PHILADELPHIA (November 28, 2018) – Warren D. Kruger, PhD, a professor at Fox Chase Cancer Center, has received a grant from the National Institutes of Health to study whether proteasome inhibitors (Pls) and proteostasis modulators are effective in restoring function to treating cystathionine beta synthase (CBS) deficiency, also known as classical homocystinuria.

CBS deficiency is a rare recessive genetic disorder that causes the accumulation of the toxic amino acid homocysteine in the blood. It is caused by mutations that alter the structure of the CBS protein, causing it to assume an incorrect 3D structure. Kruger is investigating if PIs, FDA approved drugs for the treatments of certain types of cancer, can be used to “coax” the misfolded proteins into the proper structure. This would represent a totally new use for this class of drugs. 

“We are very excited by our initial findings, which show that we can restore substantial levels of CBS enzyme activity in mice expressing patient derived mutations by treating them with PI’s.” said Kruger.

If successful, the experiments described here could lead to novel treatments for CBS deficiency and potentially other genetic diseases associated with missense mutations.

The grant was awarded to Kruger in the amount of $1,372,500.

Fox Chase Cancer Center (Fox Chase), which includes the Institute for Cancer Research and the American Oncologic Hospital and is a part of Temple Health, is one of the leading comprehensive cancer centers in the United States. Founded in 1904 in Philadelphia as one of the nation’s first cancer hospitals, Fox Chase was also among the first institutions to be designated a National Cancer Institute Comprehensive Cancer Center in 1974. Fox Chase is also one of just 10 members of the Alliance of Dedicated Cancer Centers. Fox Chase researchers have won the highest awards in their fields, including two Nobel Prizes. Fox Chase physicians are also routinely recognized in national rankings, and the Center’s nursing program has received the Magnet recognition for excellence six consecutive times. Today, Fox Chase conducts a broad array of nationally competitive basic, translational, and clinical research, with special programs in cancer prevention, detection, survivorship, and community outreach. It is the policy of Fox Chase Cancer Center that there shall be no exclusion from, or participation in, and no one denied the benefits of, the delivery of quality medical care on the basis of race, ethnicity, religion, sexual orientation, gender, gender identity/expression, disability, age, ancestry, color, national origin, physical ability, level of education, or source of payment.

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